Anne Marie Harte Walsh, from Castlebar, Co Mayo, is mum to Lewis, age 5, who has Duchenne Muscular Dystrophy.
Duchenne muscular dystrophy (DMD) is a genetic disorder characterised by progressive muscle degeneration and weakness. It is one of nine types of muscular dystrophy.
DMD is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. Symptom onset is in early childhood, usually between ages 3 and 5. The disease primarily affects boys, but in rare cases, it can affect girls.
Anne Marie's story:
"It was November 2012. I was taking Lewis to the doctor for the standard 12-month immunisation. At the time, he wasn't quite able to stand for the doctor, so it was decided to send him to a physiotherapist who concluded he wasn’t meeting his milestones.
The physio spoke with a paediatric doctor who sent Lewis for blood tests and a CT scan. He later had a muscle biopsy where they took muscle from his leg. It was some time before the diagnosis of Duchenne Muscular Dystrophy was confirmed in March 2014.
Initially, we were shocked because we were told it was hereditary but we couldn’t think of anyone with it in our family. I started Googling the condition – seeing the images was eye-opening and so upsetting. I felt it was my fault, that I had passed this on to my little boy without knowing it. I was so angry and heartbroken. Now, I feel that we do the best we can with the support we have.
Our lives have changed completely. Lewis also needs special needs accommodation which we have applied for – we are on a waiting list, but are hopeful of progress given his situation. We live in an ordinary two-storey house, but we are now looking for a bungalow to facilitate Lewis and his need for more space. My husband and I are now working part-time which has had a big impact financially.
We have a lot of appointments every week, and regular trips to Dublin to see his consultant. He attends a physiotherapist and is on steroids – ten days on, eleven days off.
He also needs access to Translarna – a drug which could keep him on his feet for a lot longer, potentially for up to ten years. A child must be five-years-old or over to access the drug, but once they can no longer walk, it is not an option for them.
Of course, Translarna is not a cure, but it does slow down the effects of the disease. There is a small window of time for Lewis to get access to this as boys with Duchenne generally start to lose mobility between 10 and 14-years-old.
Translarna is available throughout Europe, including the UK. But it has been turned down in Ireland, which is devastating.
While we worry a lot about Lewis, we are so proud of him. It was fantastic when he started going to primary school, which he loves. He is highly intelligent too with an IQ of 129. He has plenty of friends, and he is such a happy child no matter what is thrown at him.
Children with rare diseases like Duchenne are not different ̶ they deserve to be treated with the love, kindness, and understanding that all children are treated with. Lewis deserves a chance to live his life to the full."
International Rare Disease Day takes place today, Tuesday, February 28. It is estimated that there are over 6,000 rare diseases in existence worldwide affecting 6-8 per cent of the population of Ireland – up to 300,000 people. For more information on Duchenne Muscular Dystrophy, visit mdi.ie, and for the work of the Medical Research Charities Group, visit mrcg.ie.
To help boys in Ireland gain access to Translarna which they urgently need, PLEASE sign this petition:
